NDUFS1 - Gene browser

NDUFS1

NADH:ubiquinone oxidoreductase core subunit S1

HCNC Approved Symbol: NDUFS1 (HGNC:7707)
Genomic Coordinates: 2:206,114,817 - 206,159,444 (2q33.3)
Synonyms: CI-75k
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the NDUFS1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

04
Patient count

Abnormality of the basal ganglia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Gait ataxia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Hyperreflexia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Increased deep tendon reflexes: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Increased deep tendon reflexes in the lower limbs: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)